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==Crystal structure of L68V mutant of human cystatin C== | ==Crystal structure of L68V mutant of human cystatin C== | ||
<StructureSection load='3qrd' size='340' side='right' caption='[[3qrd]], [[Resolution|resolution]] 2.19Å' scene=''> | <StructureSection load='3qrd' size='340' side='right'caption='[[3qrd]], [[Resolution|resolution]] 2.19Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[3qrd]] is a 4 chain structure with sequence from [ | <table><tr><td colspan='2'>[[3qrd]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3QRD OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3QRD FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.19Å</td></tr> | ||
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PEG:DI(HYDROXYETHYL)ETHER'>PEG</scene></td></tr> | |||
<tr id=' | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3qrd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3qrd OCA], [https://pdbe.org/3qrd PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3qrd RCSB], [https://www.ebi.ac.uk/pdbsum/3qrd PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3qrd ProSAT]</span></td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | |||
</table> | </table> | ||
== Disease == | == Disease == | ||
[ | [https://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN] Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:[https://omim.org/entry/105150 105150]; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.<ref>PMID:2541223</ref> <ref>PMID:1352269</ref> Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:[https://omim.org/entry/611953 611953]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.<ref>PMID:11815350</ref> | ||
== Function == | == Function == | ||
[ | [https://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN] As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity. | ||
== References == | == References == | ||
<references/> | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Borek | [[Category: Large Structures]] | ||
[[Category: Orlikowska | [[Category: Borek D]] | ||
[[Category: Otwinowski | [[Category: Orlikowska M]] | ||
[[Category: Skowron | [[Category: Otwinowski Z]] | ||
[[Category: Szymanska | [[Category: Skowron P]] | ||
[[Category: Szymanska A]] | |||
Latest revision as of 14:55, 14 March 2024
Crystal structure of L68V mutant of human cystatin CCrystal structure of L68V mutant of human cystatin C
Structural highlights
DiseaseCYTC_HUMAN Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:105150; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.[1] [2] Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:611953. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.[3] FunctionCYTC_HUMAN As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity. References
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